Incidental Mutation 'R1171:Swt1'
ID 99367
Institutional Source Beutler Lab
Gene Symbol Swt1
Ensembl Gene ENSMUSG00000052748
Gene Name SWT1 RNA endoribonuclease homolog (S. cerevisiae)
Synonyms 1200016B10Rik
MMRRC Submission 039244-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R1171 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 151243450-151304206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 151281272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 352 (A352T)
Ref Sequence ENSEMBL: ENSMUSP00000107514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064771] [ENSMUST00000111883]
AlphaFold Q9DBQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000064771
AA Change: A352T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: A352T

DomainStartEndE-ValueType
low complexity region 186 206 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
PINc 395 522 1.94e-9 SMART
low complexity region 783 793 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111883
AA Change: A352T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748
AA Change: A352T

DomainStartEndE-ValueType
low complexity region 186 206 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
PINc 395 522 1.94e-9 SMART
Predicted Effect unknown
Transcript: ENSMUST00000129939
AA Change: A102T
SMART Domains Protein: ENSMUSP00000120483
Gene: ENSMUSG00000052748
AA Change: A102T

DomainStartEndE-ValueType
PINc 146 245 6.78e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189595
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,140,075 (GRCm39) E492V probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atr T C 9: 95,789,376 (GRCm39) F1511L probably damaging Het
Bdkrb2 G T 12: 105,558,416 (GRCm39) R219L probably benign Het
Bhmt2 A T 13: 93,798,837 (GRCm39) M328K probably benign Het
Btbd3 A G 2: 138,125,881 (GRCm39) D286G probably benign Het
Bub1b T G 2: 118,437,167 (GRCm39) L122V probably benign Het
Caml T C 13: 55,772,820 (GRCm39) S155P probably damaging Het
Cfap43 T C 19: 47,824,150 (GRCm39) K74E probably benign Het
Chst4 A G 8: 110,757,255 (GRCm39) S120P probably damaging Het
Col11a1 A G 3: 113,860,213 (GRCm39) D213G unknown Het
Cripto C A 9: 110,772,235 (GRCm39) V54L probably benign Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,495,941 (GRCm39) probably null Het
Cxcl10 CAC CACTAAC 5: 92,495,945 (GRCm39) probably null Het
Cyp26b1 A T 6: 84,553,653 (GRCm39) I167N possibly damaging Het
Dchs1 A G 7: 105,406,921 (GRCm39) S2195P probably benign Het
Ddx25 T A 9: 35,458,142 (GRCm39) K326* probably null Het
Dip2c A T 13: 9,543,162 (GRCm39) Y36F possibly damaging Het
Dock2 T C 11: 34,586,068 (GRCm39) D538G probably damaging Het
E4f1 C T 17: 24,670,523 (GRCm39) D55N probably damaging Het
Emp1 G T 6: 135,358,077 (GRCm39) W141L probably damaging Het
Faim2 T A 15: 99,398,135 (GRCm39) H271L probably benign Het
Fbxw9 T C 8: 85,792,707 (GRCm39) M352T possibly damaging Het
Fcrl2 A T 3: 87,164,167 (GRCm39) F321I probably benign Het
Frzb C T 2: 80,268,834 (GRCm39) probably null Het
Gal3st1 G T 11: 3,948,931 (GRCm39) K379N probably damaging Het
Gm5519 G A 19: 33,800,372 (GRCm39) C22Y possibly damaging Het
Gpn3 T C 5: 122,516,583 (GRCm39) F71L probably benign Het
H2-M9 A G 17: 36,952,545 (GRCm39) V167A probably benign Het
Hars1 A G 18: 36,904,467 (GRCm39) F182L possibly damaging Het
Hid1 T C 11: 115,243,543 (GRCm39) T502A probably benign Het
Hipk3 G T 2: 104,302,021 (GRCm39) T57K probably benign Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Itpk1 G A 12: 102,572,378 (GRCm39) L112F probably damaging Het
Klk1b9 T A 7: 43,443,817 (GRCm39) D110E possibly damaging Het
Lemd3 A T 10: 120,785,246 (GRCm39) M535K possibly damaging Het
Lipg A T 18: 75,078,894 (GRCm39) S453T possibly damaging Het
Lrrc75a A T 11: 62,500,069 (GRCm39) W150R probably damaging Het
Lyg1 T C 1: 37,986,305 (GRCm39) E143G probably damaging Het
Map3k1 A G 13: 111,892,177 (GRCm39) V1026A probably benign Het
Mgat3 T A 15: 80,095,838 (GRCm39) F222I probably benign Het
Mindy4 A T 6: 55,232,601 (GRCm39) N348I possibly damaging Het
Ms4a20 T C 19: 11,089,741 (GRCm39) Y48C probably damaging Het
Myo1b A C 1: 51,817,684 (GRCm39) F532C probably damaging Het
Naif1 T A 2: 32,342,558 (GRCm39) N36K probably damaging Het
Nkpd1 C A 7: 19,258,012 (GRCm39) A597E possibly damaging Het
Npr2 A G 4: 43,647,260 (GRCm39) D772G possibly damaging Het
Or52n4 T G 7: 104,294,204 (GRCm39) D123A probably damaging Het
Or6a2 T C 7: 106,600,791 (GRCm39) N92S probably benign Het
Pcolce2 A T 9: 95,576,793 (GRCm39) M355L probably benign Het
Pdgfra A T 5: 75,334,108 (GRCm39) I394F probably damaging Het
Pdzrn3 G A 6: 101,127,838 (GRCm39) R943C probably damaging Het
Pml A G 9: 58,141,821 (GRCm39) V337A probably damaging Het
Pnpla2 T A 7: 141,038,794 (GRCm39) M321K probably benign Het
Poln A T 5: 34,261,284 (GRCm39) N546K probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prss28 T A 17: 25,529,029 (GRCm39) F123L possibly damaging Het
Psg18 A G 7: 18,080,004 (GRCm39) V399A probably benign Het
Rab5a T C 17: 53,813,443 (GRCm39) C212R probably damaging Het
Ranbp6 A T 19: 29,789,679 (GRCm39) D224E probably benign Het
Recql4 T C 15: 76,588,239 (GRCm39) I1104M possibly damaging Het
Rev1 A T 1: 38,127,581 (GRCm39) N226K possibly damaging Het
Rhbdl3 T A 11: 80,244,418 (GRCm39) V375E possibly damaging Het
Senp6 T A 9: 80,024,007 (GRCm39) N423K possibly damaging Het
Sertad2 C G 11: 20,598,091 (GRCm39) L96V probably benign Het
Slc33a1 T A 3: 63,861,315 (GRCm39) T296S probably benign Het
Smurf2 G A 11: 106,743,444 (GRCm39) P188S possibly damaging Het
Spta1 T A 1: 174,039,180 (GRCm39) Y1174* probably null Het
Stra6l A T 4: 45,864,982 (GRCm39) T103S probably benign Het
Thoc2l T C 5: 104,668,769 (GRCm39) V1097A possibly damaging Het
Tigd2 T A 6: 59,188,361 (GRCm39) N409K possibly damaging Het
Tlr6 G T 5: 65,112,593 (GRCm39) H105N probably benign Het
Tmprss9 A C 10: 80,715,692 (GRCm39) T15P possibly damaging Het
Tnik C T 3: 28,587,089 (GRCm39) T120M probably damaging Het
Tnr T A 1: 159,685,780 (GRCm39) I337N probably damaging Het
Top3a A G 11: 60,641,419 (GRCm39) Y422H probably benign Het
Trim67 A G 8: 125,555,820 (GRCm39) N768S probably damaging Het
Ttn A G 2: 76,536,310 (GRCm39) V35016A probably benign Het
Utrn A C 10: 12,357,052 (GRCm39) S312R probably damaging Het
Vdac2 A G 14: 21,887,879 (GRCm39) Y62C probably damaging Het
Vwa5b2 A G 16: 20,423,734 (GRCm39) T1216A probably benign Het
Wfdc16 T C 2: 164,480,403 (GRCm39) K31E possibly damaging Het
Wtip C T 7: 33,824,921 (GRCm39) C221Y probably damaging Het
Xrn1 A G 9: 95,873,064 (GRCm39) D640G possibly damaging Het
Zdhhc5 T C 2: 84,522,685 (GRCm39) R293G probably benign Het
Zfp536 T C 7: 37,269,059 (GRCm39) D119G probably damaging Het
Zfp81 T C 17: 33,554,254 (GRCm39) T187A probably benign Het
Zfp810 C T 9: 22,190,122 (GRCm39) G262D possibly damaging Het
Zfp963 A C 8: 70,195,669 (GRCm39) I203M possibly damaging Het
Zfpm2 T C 15: 40,965,075 (GRCm39) M520T probably damaging Het
Zswim8 G A 14: 20,763,181 (GRCm39) R360Q possibly damaging Het
Zwilch T A 9: 64,065,999 (GRCm39) H254L possibly damaging Het
Other mutations in Swt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Swt1 APN 1 151,286,890 (GRCm39) missense probably damaging 0.99
IGL01622:Swt1 APN 1 151,286,760 (GRCm39) missense probably benign 0.01
IGL01623:Swt1 APN 1 151,286,760 (GRCm39) missense probably benign 0.01
IGL01672:Swt1 APN 1 151,270,359 (GRCm39) critical splice donor site probably null
IGL01693:Swt1 APN 1 151,297,855 (GRCm39) missense probably benign 0.02
IGL02203:Swt1 APN 1 151,246,377 (GRCm39) missense probably benign 0.01
IGL03223:Swt1 APN 1 151,255,170 (GRCm39) missense possibly damaging 0.80
R0124:Swt1 UTSW 1 151,267,280 (GRCm39) missense probably damaging 1.00
R0496:Swt1 UTSW 1 151,287,021 (GRCm39) missense probably benign
R1037:Swt1 UTSW 1 151,246,320 (GRCm39) splice site probably benign
R1270:Swt1 UTSW 1 151,260,142 (GRCm39) missense probably benign 0.00
R1883:Swt1 UTSW 1 151,299,284 (GRCm39) nonsense probably null
R2051:Swt1 UTSW 1 151,248,081 (GRCm39) missense probably damaging 1.00
R2110:Swt1 UTSW 1 151,279,636 (GRCm39) missense probably damaging 0.97
R2185:Swt1 UTSW 1 151,260,219 (GRCm39) missense probably damaging 1.00
R3688:Swt1 UTSW 1 151,267,240 (GRCm39) missense probably damaging 0.99
R3785:Swt1 UTSW 1 151,255,155 (GRCm39) missense probably benign 0.03
R4074:Swt1 UTSW 1 151,270,520 (GRCm39) missense probably benign
R4157:Swt1 UTSW 1 151,278,795 (GRCm39) missense probably damaging 1.00
R4660:Swt1 UTSW 1 151,283,348 (GRCm39) missense probably benign 0.18
R4761:Swt1 UTSW 1 151,276,853 (GRCm39) missense probably benign 0.43
R4972:Swt1 UTSW 1 151,299,293 (GRCm39) missense probably benign 0.22
R5141:Swt1 UTSW 1 151,287,145 (GRCm39) missense probably benign 0.04
R5227:Swt1 UTSW 1 151,278,727 (GRCm39) nonsense probably null
R5400:Swt1 UTSW 1 151,288,585 (GRCm39) missense probably benign 0.00
R5580:Swt1 UTSW 1 151,260,206 (GRCm39) missense probably benign 0.00
R5912:Swt1 UTSW 1 151,287,160 (GRCm39) missense probably damaging 1.00
R5945:Swt1 UTSW 1 151,286,921 (GRCm39) missense probably benign 0.01
R5973:Swt1 UTSW 1 151,278,700 (GRCm39) splice site probably null
R5979:Swt1 UTSW 1 151,283,339 (GRCm39) missense possibly damaging 0.94
R6242:Swt1 UTSW 1 151,283,365 (GRCm39) missense probably benign 0.41
R6283:Swt1 UTSW 1 151,260,084 (GRCm39) missense possibly damaging 0.78
R6951:Swt1 UTSW 1 151,273,019 (GRCm39) missense possibly damaging 0.88
R7009:Swt1 UTSW 1 151,246,381 (GRCm39) missense possibly damaging 0.94
R7165:Swt1 UTSW 1 151,264,428 (GRCm39) missense probably damaging 1.00
R7214:Swt1 UTSW 1 151,270,364 (GRCm39) missense possibly damaging 0.63
R7403:Swt1 UTSW 1 151,264,444 (GRCm39) missense probably benign 0.01
R7439:Swt1 UTSW 1 151,286,815 (GRCm39) missense probably benign 0.04
R7441:Swt1 UTSW 1 151,286,815 (GRCm39) missense probably benign 0.04
R7571:Swt1 UTSW 1 151,270,470 (GRCm39) missense probably benign 0.00
R8028:Swt1 UTSW 1 151,260,248 (GRCm39) missense probably benign 0.26
R8225:Swt1 UTSW 1 151,297,859 (GRCm39) missense possibly damaging 0.96
R9075:Swt1 UTSW 1 151,246,245 (GRCm39) intron probably benign
R9100:Swt1 UTSW 1 151,299,256 (GRCm39) critical splice donor site probably null
R9135:Swt1 UTSW 1 151,244,239 (GRCm39) missense possibly damaging 0.61
R9291:Swt1 UTSW 1 151,286,694 (GRCm39) missense probably damaging 0.96
R9292:Swt1 UTSW 1 151,278,787 (GRCm39) missense probably benign 0.00
R9368:Swt1 UTSW 1 151,286,767 (GRCm39) missense possibly damaging 0.90
X0062:Swt1 UTSW 1 151,287,190 (GRCm39) missense probably benign 0.43
Z1176:Swt1 UTSW 1 151,264,436 (GRCm39) missense probably damaging 0.98
Predicted Primers
Posted On 2014-01-15